RGD:8623330 Rat Genome Database

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Variant: RGD:8623330 -  Homo sapiens

RGD ID: 8623330
RS ID: rs199472826
ClinVar ID: CV78413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 150,674,937
GRCh38 7 150,977,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_288t2:c.65T>C
LRG_288:g.5078T>C
NG_008916.1:g.5078T>C
NC_000007.14:g.150977849A>G
More... 		missense|missense variant pathogenic|not provided Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNH2
Accession:NM_172056
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVRRGHVAPQNTFLDTIIRKSEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAA
QIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRA
KTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSP
PRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTS
DSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTI
LHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANE
EVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALI
AHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIF
SICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGF
PECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILG
MGWGAGTGLEMPSAASRGASLLNMQSLGLWTWDCLQGHWAPLIHLNSGPPSGAMERSPTWGEAAELWGSHILLPFRIRHK
QTLFASLK*

Gene Symbol:KCNH2
Accession:NM_000238
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVRRGHVAPQNTFLDTIIRKSEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAA
QIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRA
KTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSP
PRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTS
DSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTI
LHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANE
EVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALI
AHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIF
SICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGF
PECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILG
KNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGG
FSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSS
PRPPGEPPGGEPLMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVES
RLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEEL
PPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS*

Gene Symbol:KCNH2
Accession:NR_176254
Location:EXON;NON-CODING

Gene Symbol:KCNH2
Accession:NM_001406753
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420349
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_011516185
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406755
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172057
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406756
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001204798
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012195
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406757
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420348
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012196
Location:INTRON

Gene Symbol:KCNH2
Accession:NR_176255
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:19862833   PMID:22581653  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000058246 CLINVAR
dbSNP (RS) rs199472826 CLINVAR
MedGen C1141890 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR
  192500 CLINVAR
SNOMED CT 442917000 CLINVAR